NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu) AND Ehlers-Danlos syndrome, type 4

Clinical significance:Pathogenic (Last evaluated: Mar 9, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000018751.28

Allele description [Variation Report for NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu)]

NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu)

Gene:
COL3A1:collagen type III alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu)
HGVS:
  • NC_000002.12:g.188996171G>A
  • NG_007404.1:g.26799G>A
  • NM_000090.3:c.1655G>A
  • NP_000081.1:p.Gly552Glu
  • LRG_3t1:c.1655G>A
  • LRG_3:g.26799G>A
  • LRG_3p1:p.Gly552Glu
  • NC_000002.11:g.189860897G>A
Protein change:
G385E; GLY385GLU
Links:
OMIM: 120180.0030; dbSNP: 121912928
NCBI 1000 Genomes Browser:
rs121912928
Molecular consequence:
  • NM_000090.3:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Ehlers-Danlos syndrome, type 4 (EDS4)
Identifiers:
MedGen: C0268338; Orphanet: 286; OMIM: 130050
Age of onset:
Neonatal
Prevalence:
1-9 / 100 000 286

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039034OMIMno assertion criteria providedPathogenic
(Mar 9, 2000)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000120318Collagen Diagnostic Laboratory,University of Washington Medical Centerno assertion criteria providedPathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Pepin M, Schwarze U, Superti-Furga A, Byers PH.

N Engl J Med. 2000 Mar 9;342(10):673-80. Erratum in: N Engl J Med 2001 Feb 1;344(5):392.

PubMed [citation]
PMID:
10706896

Details of each submission

From OMIM, SCV000039034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 of 135 unrelated families, Pepin et al. (2000) found a gly385-to-glu mutation in the COL3A1 gene as the cause of type IV EDS (130050).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Collagen Diagnostic Laboratory,University of Washington Medical Center, SCV000120318.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providedconfirm protein changenot providednot providednot providednot provided

Last Updated: Jan 28, 2016